Phenotypes for disease #00269 (PKD1 (kidney disease, polycystic, type 1), OMIM:173900)

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Cysts: individual has cysts, please specify
All options:

normal = no cysts
adenomatoid lung disease = cystic adenomatoid lung disease (HP:0010959)
aneurysmal bone = aneurysmal bone cyst (HP:0012063)
bone angiomatosis = cystic angiomatosis bone (HP:0002833 )
arachnoid = arachnoid cysts (HP:0100702)
basal ganglia = basal ganglia cysts (HP:0006799)
bone = bone cysts (HP:0100696)
bone unicameral = unicameral bone cyst (HP:0012064)
branchial = branchial cyst (HP:0009796)
bronchogenic = bronchogenic cyst (HP:0100730)
cerebellar = cerebellar cysts (HP:0002350)
cerebralic malformation = cerebral cystic malformation (HP:0010576)
choledochal = choledochal cyst (HP:0100890)
choroid plexus = choroid plexus cyst (HP:0002190)
cortical = cortical cysts (HP:0000803)
Dandy-Walker = Dandy-Walker cyst (HP:0001305)
eyelid = cysts eyelid (HP:0010604)
fetal choroid plexus = fetal choroid plexus cysts (HP:0011426)
fetal hygroma = fetal cystic hygroma (HP:0010878)
gastric duplication = gastric duplication cyst (HP:0011139)
intracranial dermoid = intracranial dermoid cyst (HP:0012097)
intracranial epidermoid = intracranial epidermoid cyst (HP:0012096)
intrahepatic bile duct = intrahepatic bile duct cysts (HP:0005209)
iris = iris cyst (HP:0011523)
laryngeal = laryngeal cyst (HP:0100640)
liver = cystic liver disease (HP:0006706)
hepatic = hepatic cysts (HP:0001407)
lung = cystic lung disease (HP:0005948)
lung lesion = cystic lung lesion (HP:0100632)
macular degeneration = cystic macular degeneration (HP:0008028)
orbital = orbital cysts (HP:0001144)
ovarian = ovarian cysts (HP:0000138)
pancreatic = pancreatic cysts (HP:0001737)
periventricular = periventricular cysts (HP:0007109)
pilonidal = pilonidal cyst (HP:0010769)
pinnae = cystic lesions pinnae (HP:0010723)
posterior fossa = posterior fossa cyst (HP:0007291)
posterior fossa ventricle 4th = posterior fossa cyst 4th ventricle (HP:0000933)
postnatalic hygroma = postnatal cystic hygroma (HP:0010879)
renal = renal cysts (HP:0000107)
retrocerebellar = retrocerebellar cyst (HP:0006951)
skin = skin cysts (HP:0200040)
spina bifida = spina bifida cystica (HP:0002475)
spinal canal = epidural arachnoid cysts spinal canal (HP:0009745)
subependymal = subependymal cysts (HP:0002416)
thyroglossal = thyroglossal cyst (HP:0010518)
urinary bladder = cystitis urinary bladder (HP:0100577)
? = unknown
n/a = not applicable

Hypertension: individual has hypertension (please specify)
All options:

episodic = episodic hypertension (HP:0000875)
extrahepatic = extrahepatic portal hypertension (HP:0004941)
hypertension = hypertension (HP:0000822)
maternal = maternal hypertension (HP:0008071)
pheochromocytoma = pheochromocytoma ass. hypertension (HP:0002640)
portal = portal hypertension (HP:0001409)
pulmonary = pulmonary hypertension (HP:0002092)
renovascular = renovascular hypertension (HP:0100817)
no = no hypertension
? = unknown
n/a = not applicable

Protein: result from protein staining

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239 entries on 3 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Cysts	Hypertension	Protein	Owner	Individual ID
0000015432	-	-	-	Unknown	-	-	-	-	-	-	-	Johan den Dunnen	00017058
0000015433	ESRD onset 53y, affected brother/father died at 46y/42y, niece with renal cysts available for study	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017059
0000015437	-	-	-	Unknown	-	-	-	-	-	-	-	Johan den Dunnen	00017063
0000015959	situs inversus totalis, fertility unknown, chronic obstructive airway disease, chronic bronchitis, chronic cough, gastroesophageal reflux	-	-	Isolated (sporadic)	15y	-	-	-	-	-	-	Johan den Dunnen	00017600
0000015960	situs inversus totalis, fertility unknown, recurrent otitis media, chronic obstructive airway disease, learning disability, congnitive dysfunction	-	-	Isolated (sporadic)	18y	-	-	-	-	-	-	Johan den Dunnen	00017601
0000015961	situs inversus totalis, fertility unknown, recurrent otitis media, recurrent sinusitis	-	-	Isolated (sporadic)	12y	-	-	-	-	-	-	Johan den Dunnen	00017602
0000015962	situs solitus, infertile (treated, 3 daugthers by assisted reproduction), neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, recurrent pneumonia, chronic obstructive airway disease	-	-	Isolated (sporadic)	43y	-	-	-	-	-	-	Johan den Dunnen	00017603
0000015963	situs solitus, infertile (immotile sperm), neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, middle lobe parenchymal changes	-	-	Isolated (sporadic)	31y	-	-	-	-	-	-	Johan den Dunnen	00017604
0000015964	situs ambiguus (dextrocardia, polysplenia), fertility not applicable, neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, bronchiectasis	-	-	Isolated (sporadic)	8y	-	-	-	-	-	-	Johan den Dunnen	00017605
0000015965	situs solitus, fertility unknown, neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, bronchiectasis	-	-	Isolated (sporadic)	36y	-	-	-	-	-	-	Johan den Dunnen	00017606
0000015966	situs solitus, infertile, recurrent sinusitis	-	-	Isolated (sporadic)	73y	-	-	-	-	-	-	Johan den Dunnen	00017607
0000015967	situs inversus totalis, infertile, recurrent otitis media, recurrent sinusitis, bronchiectasis	-	-	Isolated (sporadic)	63y	-	-	-	-	-	-	Johan den Dunnen	00017608
0000015968	situs inversus totalis, infertile (immotile sperm), neonatal respiratory distress, recurrent otitis media, recurrent sinusitis, bronchiectasis	-	-	Isolated (sporadic)	22y	-	-	-	-	-	-	Johan den Dunnen	00017609
0000015969	situs solitus, fertility unknown, neonatal respiratory distress, chronic rhinitis since infancy, chronic wet cough, microcephaly and learning disability	-	-	Isolated (sporadic)	18y	-	-	-	-	-	-	Johan den Dunnen	00017610
0000015970	situs ambiguus (left atrial isomerism, polysplenia), fertility not applicable, neonatal respiratory distress, chronic rhinitis since infancy, chronic wet cough, bronchiectasis, recurrent otitis media	-	-	Isolated (sporadic)	16y	-	-	-	-	-	-	Johan den Dunnen	00017611
0000016275	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017932
0000016276	-	-	-	Isolated (sporadic)	-	-	-	-	-	-	-	Johan den Dunnen	00017933
0000016277	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017934
0000016287	ESRD onset 53y; affected father, grandfather, cousin, great uncle had died at 48y, 63y, 43y, 60y	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017944
0000016288	ESRD onset 47y, affected sister and three children, ages 28y, 23y and 22y with renal cysts but normal renal function	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017945
0000016291	33y elevated blood pressure, chronic renal disease; MZ twin daughters (4y) few cysts in each kidney, organs not enlarged, twins remained normotensive	-	-	Unknown	-	-	-	-	-	-	-	Johan den Dunnen	00017948
0000016292	ESRD onset 57y, two daughters negative renal ultrasounds (37y and 34y)	-	-	Isolated (sporadic)	-	-	-	-	-	-	-	Johan den Dunnen	00017949
0000016293	-	-	-	Unknown	-	-	-	-	-	-	-	Johan den Dunnen	00017950
0000016297	-	-	-	Unknown	-	-	-	-	-	-	-	Johan den Dunnen	00017954
0000016298	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017955
0000016299	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017956
0000016300	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017957
0000016303	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017960
0000016304	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017961
0000016305	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017962
0000016306	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017963
0000016307	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017964
0000016308	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017965
0000016309	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017966
0000016310	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00017967
0000016407	family history of PKD	-	-	Familial	-	-	-	-	-	-	-	Johan den Dunnen	00018064
0000016658	-	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Johan den Dunnen	00018315
0000016755	28y:bilateral, multiple renal cysts were detected in the father, asymptomatic and normal renal size + function; III2 is now 6y: kidneys continue to be enlarged (>95th centile), multiple cysts, since 2y: hypertensive renal function remains normal.	-	-	Isolated (sporadic)	-	-	-	-	-	-	-	Marianne Vos (LOVD-team)	00017941
0000016756	8 family members were confirmed as polycystic kidney patients. 2 patients reached end-stage renal failure and started hemodialysis at 47y and 64y. Both successfully received transplants, later died due to coronary/artery disease and myocardial infarctions. All other affected members, aged 18–50y, have large polycystic kidneys with large cysts appearing early in their second and third decades of life. Affected members develop various degrees of kidney failure and hypertension.	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Marianne Vos (LOVD-team)	00017940
0000016757	3 in generation I age onset ESDR 57y, 54y, and 53y; generation II raised SC levels: 103 51y, 253 46y	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Marianne Vos (LOVD-team)	00017935
0000016758	1 ESRD at 61y, 1 raised SC of 153 at 58y, 1 has a normal SC level of 66 at 43y.	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Marianne Vos (LOVD-team)	00017936
0000016759	Age ESRD 49y in affected mother (now deceased) and 42y in son. 2nd affected son has polycystic kidneys diagnosed on ultrasound.	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Marianne Vos (LOVD-team)	00017937
0000016760	Age at death: generation II: 42y + 58y, Generation III: 44y, 55y, 56y, 61y, no ESRD. Age at ESRD: Generation II: 55y, Generation III: 65y, Generation IV: 51y, 48y. Generation II: 1 subject is approaching renal failure at 63y, SC level of 529. Generation IV: 2 ind. have elevated SC levels of 309 (53 y) and 326 (49y), 3 ind. in generation V have normal SC levels; 78 at 26y, 87 at 28y, 91 at 33y.	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Marianne Vos (LOVD-team)	00017938
0000016761	2 sub. reached renal failure at 61y (gen II) and 45y (gen III). 2 sub from gen III have near normal (90 at 47y) or significantly elevated SC levels (177 at 49y). 2 sub from gen IV have SC levels of 89 and 82 at 28y and 21y.	-	-	Familial, autosomal dominant	-	-	-	-	-	-	-	Marianne Vos (LOVD-team)	00017939
0000036735	kidney disease, chronic, type 1 (HP:0012623); renal cysts (HP:0000107); no hypertension (-HP:0000822)	-	-	Familial, autosomal dominant	-	23y	-	-	renal	no	-	Johan den Dunnen	00050132
0000036736	prevalence of cerebrovascular disease; kidney disease, chronic, type 1 (HP:0012623); renal cysts (HP:0000107); no hypertension (-HP:0000822)	-	-	Familial, autosomal dominant	-	23y	-	-	renal	no	-	Paola Carrera	00050133
0000045430	prevalence of cerebrovascular disease; kidney disease, chronic, type 1 (HP:0012623); renal cysts (HP:0000107); no hypertension (-HP:0000822)	-	-	Familial, autosomal dominant	-	23y	-	affected	renal	no	-	Paola Carrera	00058842
0000045431	kidney disease, chronic, type 4 (HP:0012626); ellipsoid US volume (884); renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058843
0000045433	kidney disease, chronic, type 5 (HP:0003774); renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	?	-	Paola Carrera	00058845
0000045434	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	?	-	Paola Carrera	00058846
0000045435	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058847
0000045436	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058848
0000045437	no aneurysm; renal cysts (HP:0000107); no hypertension (-HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	no	-	Paola Carrera	00058849
0000045438	cerebral aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058850
0000045440	renal cysts (HP:0000107); no hypertension (-HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	no	-	Paola Carrera	00058852
0000045442	renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058854
0000045444	renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058856
0000045448	renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058860
0000045449	renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058861
0000045450	no aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058862
0000045451	renal cysts (HP:0000107); no hypertension (-HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	no	-	Paola Carrera	00058863
0000045452	no aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058864
0000045454	no aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058866
0000045455	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058867
0000045456	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058868
0000045457	renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058869
0000045458	no aneurysm; renal cysts (HP:0000107); no hypertension (-HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	no	-	Paola Carrera	00058870
0000045460	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	?	-	Paola Carrera	00058872
0000045461	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	?	-	Paola Carrera	00058873
0000045463	renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058875
0000045464	hypertension 120/85; renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058876
0000045465	renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058877
0000045466	renal cysts (HP:0000107); no hypertension (-HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	no	-	Paola Carrera	00058878
0000045467	no aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058879
0000045468	renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058880
0000045469	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058881
0000045470	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058882
0000045471	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058883
0000045473	no aneurysm; renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058885
0000045474	no aneurysm; renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058886
0000045475	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058887
0000045476	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058888
0000045477	renal cysts (HP:0000107); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	hypertension	-	Paola Carrera	00058889
0000045478	kidney disease, chronic, type 5 (HP:0003774); renal cysts (HP:0000107); hepatic cysts (HP:0001407); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal;hepatic	hypertension	-	Paola Carrera	00058890
0000045479	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058891
0000045480	no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107); hepatic cysts (HP:0001407); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal;hepatic	hypertension	-	Paola Carrera	00058892
0000045481	kidney disease, chronic, type 4 (HP:0012626); renal cysts (HP:0000107); hepatic cysts (HP:0001407); hypertension (HP:0000822)	-	-	Familial, autosomal dominant	-	-	-	affected	renal;hepatic	hypertension	-	Paola Carrera	00058893
0000045482	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058894
0000045483	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	27y	-	affected	renal	-	-	Paola Carrera	00058895
0000045484	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058896
0000045485	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058897
0000045486	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058898
0000045488	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058900
0000045489	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	16y	-	affected	renal	-	-	Paola Carrera	00058901
0000045490	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058902
0000045491	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058903
0000045492	no chronic kidney disease (-HP:0012622); renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	72y	-	affected	renal	-	-	Paola Carrera	00058904
0000045493	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	-	-	affected	renal	-	-	Paola Carrera	00058905
0000045494	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	20y	-	affected	renal	-	-	Paola Carrera	00058906
0000045495	renal cysts (HP:0000107)	-	-	Familial, autosomal dominant	-	40y	-	affected	renal	-	-	Paola Carrera	00058907

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Global Variome shared LOVD

WNT2B (wingless-type MMTV integration site family, ...)